Variant report

Variant	rs1478504
Chromosome Location	chr16:80200871-80200872
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11150248	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11150249	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11150250	0.82[AFR][1000 genomes]
rs11640391	0.89[CEU][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11640831	0.88[EUR][1000 genomes]
rs11642380	0.85[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11642712	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11646831	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11647537	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11648337	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11649346	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11859592	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11866127	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12597962	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12926031	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12926639	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12927541	0.89[CEU][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12927726	0.89[CEU][hapmap];0.80[YRI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12927869	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12928265	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12928708	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12930060	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16944269	0.90[AFR][1000 genomes]
rs17727704	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17734652	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17796688	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1904184	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1904186	0.89[EUR][1000 genomes]
rs2008481	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2061792	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34149818	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34758462	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4300652	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4405565	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7191912	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7193739	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7201276	0.88[EUR][1000 genomes]
rs8046518	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8060188	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs8060663	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9673176	0.92[EUR][1000 genomes]
rs9935498	0.89[CEU][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9935652	0.88[EUR][1000 genomes]
rs9939067	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833298	chr16:80122337-80314603	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1055982	chr16:80151604-80202923	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80193600-80201400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:80193600-80207600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr16:80193800-80201400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr16:80198000-80201400	Weak transcription	Pancreas	Pancrea
5	chr16:80199600-80201600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr16:80199600-80207800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr16:80199800-80201600	Weak transcription	HSMM	muscle
8	chr16:80200200-80201200	Weak transcription	A549	lung
9	chr16:80200600-80202400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr16:80200800-80201000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr16:80200800-80201600	Enhancers	Fetal Kidney	kidney

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